Hypothalamic adipsia without demonstrable structural lesion.
The clinical and laboratory data of a 5-year-old boy with the syndrome of essential hypernatremia are presented. In a four-year follow-up, no demonstrable hypothalamic structural lesion has been identified. Review of the literature has uncovered four similar cases, suggesting a distinct syndrome of altered hypothalamic function. The syndrome is characterized by: adipsia-hypodipsia (5/5 patients), recurrent hypernatremia (5/5), obesity (4/5), inability to excrete a water load (5/5), lack of growth hormone release in response to provocative stimuli (4/4), blunted thyrotropin releasing hormone responses (3/4), hypothyroidism (2/4), and hyperlipemia associated with hypernatremic crisis (1/1). In one of the patients the syndrome has been attributed to a disturbance of the opioid-peptide system.
D002648:Child; D002675:Child, Preschool; D004200:Diseases in Twins; D004326:Drinking; D005640:Follicle Stimulating Hormone / Q000097:blood; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D006955:Hypernatremia / Q000175:diagnosis / Q000209:etiology; D007027:Hypothalamic Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D009765:Obesity / Q000209:etiology; D013894:Thirst; D013972:Thyrotropin / Q000097:blood
D005640:Follicle Stimulating Hormone; D013972:Thyrotropin; D013006:Growth Hormone